Mutation spectrum of Drosophila CNVs revealed by breakpoint sequencing.

ABSTRACT:

Background

The detailed study of breakpoints associated with copy number variants (CNVs) can elucidate the mutational mechanisms that generate them and the comparison of breakpoints across species can highlight differences in genomic architecture that may lead to lineage-specific differences in patterns of CNVs. Here, we provide a detailed analysis of Drosophila CNV breakpoints and contrast it with similar analyses recently carried out for the human genome.

Results

By applying split-read methods to a total of 10x coverage of 454 shotgun sequence across nine lines of D. melanogaster and by re-examining a previously published dataset of CNVs detected using tiling arrays, we identified the precise breakpoints of more than 600 insertions, deletions, and duplications. Contrasting

SUBMITTER: Cardoso-Moreira M 

PROVIDER: S-EPMC4056370 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature